Maple syrup urine disease: mechanisms and management

por Blackburn, Patrick R, Gass, Jennifer M, Vairo, Filippo Pinto e, Farnham, Kristen M, Atwal, Herjot K, Macklin, Sarah, Klee, Eric W, Atwal, Paldeep S
Publicado 2017

Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

por DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A., Atwal, Paldeep S.
Publicado 2017